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Multi-color FISH in 54 patients with therapy-related MDS/AML



Multi-color FISH in 54 patients with therapy-related MDS/AML



Blood 98(11 Part 1): 579a, November 16



In therapy-related MDS/AML (t-MDS/t-AML) 80-90% of the patients (pts.) present chromosome aberrations, which in 20-30% cannot be fully identified by conventional G-banding. Bone marrow cells were investigated by multi-color FISH (M-FISH) in 11 pts. with t-MDS/t-AML and a normal karyotype and in 43 pts. with one or more unidentified chromosome aberrations. Dual-color FISH with whole chromosome painting probes and centromere-specific probes were subsequently applied to confirm the results of M-FISH. No new abnormalities were detected in 11 pts. with t-MDS/t-AML and a normal karyotype. Chromosome 5 was involved in 23/43 pts. with previously unidentified aberrations, in all cases resulting in loss of various parts of, or of the whole long arm of the chromosome. Chromosome 7 was involved in 17/43 pts. with previously unidentified chromosome aberrations, in 14/43 resulting in loss of various parts of, or of the whole long arm of the chromosome. Only 2/15 pts. still presented monosomy 5, and only 6/14 pts. presented monosomy 7 after M-FISH. Chromosome 3 was involved in 16/43 pts. with unidentified aberrations, chromosome 6 in 10/43 pts., and chromosome 11 in 10/43 pts. The abnormalities of chromosome 11 resulted in gain of various parts of 11q in all 10 pts., whereas the abnormalities of chromosomes 3 and 6 were uncharacteristic. Only 1/43 pts. with previously unidentified aberrations showed a balanced translocation, a t(3;9). The breakpoints of this particular case is under investigation. Dicentric chromosomes were suggested by M-FISH and confirmed by centromere-specific probes in 19/43 pts. with previously unidentified aberrations. Formation of dicentrics resulted in loss of 5q in 12 pts, loss of 7q in 5 pts., and loss of 17p in 5 pts., whereas chromosome 18 was involved in 4 cases. Thus, the frequency of dicentric chromosomes in t-MDS/t-AML is even higher than previously reported. In conclusion, M-FISH is very useful as a supplement to G-banding in pts. with unidentified chromosome aberrations, but is of limited value in pts. with a normal karyotype.

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